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Article

Expanding the Phenotypic Spectrum of SPG7 Rare Damaging Variants: Insights From a Hungarian Cohort.

Clinical genetics - 1 Aug 2025

Jimoh Idris Janos, Balicza Peter, Szlepak Tamas, Csaban Dora, Gal Aniko, Geresi Adrienn, Grosz Zoltan, Palasti Agnes, Boczan Judit, Klivenyi Peter, Molnar Maria Judit

Abstract excerpt

Mitochondria-associated paraplegin dysfunction is primarily linked to spastic paraplegia; however, genetic alterations in SPG7 have been associated with a broader spectrum of clinical symptoms. To identify disease-causing variants in the SPG7 gene, 437 patients with spastic ataxia, mitochondrial dysfunction-associated symptoms, or motoneuron lesions detected by EMG have been tested. We aimed to assess the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Open in PubMed Open full text

Identifiers

PMID: 39978794
DOI: 10.1111/cge.14719
PMCID: PMC12215234

Genes

SPG7
AFG3L2

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 8 Sept 2026.

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